| Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 5 | 150056112 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 5 | 150061731 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 1989 | 1989 | |||||
|
1 | 1.000 | 0.040 | 5 | 150056311 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 5 | 150055329 | missense variant | A/T | snv | 2.4E-05 | 4.9E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 5 | 150057312 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
9 | 0.851 | 0.160 | 5 | 150056050 | missense variant | GGAT/TGCC | mnv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 150061597 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 150061583 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 150060934 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 150057298 | missense variant | C/G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 5 | 150056343 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 150056337 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 150056214 | splice region variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 150056032 | inframe deletion | AGA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 150056034 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 150055288 | missense variant | A/C;G | snv | 4.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 5 | 150055259 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 150060873 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 150056097 | missense variant | A/G | snv | 0.700 | 0 |